List of variants reported as uncertain significance for congenital bile acid synthesis defect by Baylor Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)	rs145152682	0.00054
NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr)	rs138977616	0.00016
NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His)	rs755729966	0.00014
NM_004820.5(CYP7B1):c.17C>G (p.Ser6Cys)	rs1044499833	0.00003
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser)	rs753124330	0.00001
NM_025193.4(HSD3B7):c.557C>T (p.Thr186Met)	rs141929596	0.00001
NM_003500.4(ACOX2):c.380G>A (p.Arg127Lys)	rs1453813439
NM_005989.4(AKR1D1):c.647T>C (p.Ile216Thr)	rs1794440472
NM_005989.4(AKR1D1):c.675T>A (p.Ser225Arg)	rs1562937700
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)	rs199734111
NM_025193.4(HSD3B7):c.569G>A (p.Arg190His)
NM_025193.4(HSD3B7):c.968C>T (p.Thr323Met)

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